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Details for SQSTM1:c.1175C>T, p.Pro392Leu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179263445	179836445

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1175C>T

PROTEIN CHANGE

p.Pro392Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0	0.0101	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00098	0.0002462	0.001272	0.0001985	0.0	0.0003696	0.001447	0.002443	0.000294

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.503945	Disease causing

DBSNP ID

3 combinations linked to SQSTM1:c.1175C>T, p.Pro392Leu

OLI1623; OLI1632; OLI1732

2 diseases linked to SQSTM1:c.1175C>T, p.Pro392Leu

Amyotrophic lateral sclerosis; Distal myopathy

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